Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

doi:10.1136/jmg.2007.050450

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Article

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Journal of medical genetics - 1 Dec 2007

Nava Caroline, Hanna Nadine, Michot Caroline, Pereira Sabrina, Pouvreau Nathalie, Niihori Tetsuya, Aoki Yoko, Matsubara Yoichi, Arveiler Benoit, Lacombe Didier, Pasmant Eric, Parfait Béatrice, Baumann Clarisse, Héron Delphine, Sigaudy Sabine, Toutain Annick, Rio Marlène, Goldenberg Alice, Leheup Bruno, Verloes Alain, Cavé Hélène

Abstract excerpt

Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients (40 patients with a clinical diagnosis of CFC, 20 patients without HRAS mutations from the French...

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Identifiers

PMID: 17704260
DOI: 10.1136/jmg.2007.050450
PMCID: PMC2652823

Genes

HRAS
BRAF
KRAS
PTPN11
SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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